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Heterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia. Here we provide a detailed description of the clinical features associated with SOX2 mutations in the five individuals with reported mutations and four newly identified cases (including the first reported SOX2 missense mutation). The SOX2-associated(More)
The optic chiasm is one of the most popular models for studying axon guidance. Here axons make a key binary decision either to cross the midline to innervate the contralateral hemisphere or to remain uncrossed. In rodents, midline interactions between axons from the two eyes are critical for normal development, as early removal of one eye systematically(More)
Efficient logistics control demands for transparency to inventory in the whole distribution network. However, current information technology (IT) solutions do not support creating inventory transparency to temporary storage locations, which poses severe problems for supply chain management in project-oriented industries. This paper presents how inventory(More)
Trichiasis is the sight-threatening consequence of conjunctival scarring in trachoma, the most common infectious cause of blindness worldwide. Trachomatous trichiasis is the result of multiple infections from childhood with Chlamydia trachomatis, which causes recurrent chronic inflammation in the tarsal conjunctiva. This produces conjunctival scarring,(More)
OBJECTIVE To evaluate higher-order kinematic analysis, a technique not previously applied to surgical skills assessment, as a tool for elucidating patterns of movement. METHODS An observational cohort study of 27 subjects, divided into 3 equal groups based on surgical experience consisting of novice (performed <5 prior procedures), intermediate (performed(More)
The authors report the 10-year follow-up of a case with a recurrent ptosis affecting both eyelids independently. The histology of the levator palpebrae superioris and Müller's muscle was consistent with a localised myopathic process. A therapeutic response to acetazolamide suggests that ion-channel dysfunction may be the underlying cause for this new(More)
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